RESUMO
We report on a child who presented clinical manifestations of both neurofibromatosis type 1 (NF1) and cherubism. With genetic testing, we found a mutation in the NF-1 gene, confirming the neurocutaneous disorder. Histology when correlated with radiological evaluation of a mandibular biopsy was consistent with cherubism. This is the first report in the literature of a child with proven neurofibromatosis type 1 and cherubism without extragnathic lesions. This emphasises that cherubism is a clinical phenotype that can be associated with a number of germline mutations involving SH3BP2, PTPN11 and NF1.
Assuntos
Querubismo/complicações , Genes da Neurofibromatose 1 , Neurofibromatose 1/complicações , Adolescente , Sequência de Bases , Querubismo/diagnóstico por imagem , Querubismo/patologia , Criança , Humanos , Masculino , Mutação , Neurofibromatose 1/diagnóstico , Neurofibromatose 1/genética , Fenótipo , RadiografiaRESUMO
A 2-year-old boy known with homozygous sickle cell anaemia became acutely ill at home. Despite intensive care, he died a few hours later due to pneumococcal septicaemia. In young children with homozygous sickle cell anaemia, spleen function is already severely impaired in childhood due to haemolysis and frequent vaso-occlusive episodes. These children therefore have an elevated susceptibility to severe invasive infections with encapsulated bacteria. Vaccination against pneumococci at-2 years of age, re-vaccination every 3-5 years, and antibiotic prophylaxis until 5 years of age, and thereafter with possible infections, are therefore necessary.